NEW DRUG THERAPY IN TREATMENT OF NEPHROPATHIC CYSTINOSIS

胱氨酸病是一种遗传性疾病， 婴儿范可尼综合征，随后发生进行性肾小球损害 需要在10岁时进行透析和移植。 在几个 其他临床表现是严重的生长迟缓。 胱氨酸病是 用胱氨酸消耗硫醇半胱胺处理，其除了 帮助其他器官，也会促进生长。 然而，大多数儿童 胱氨酸病仍然远低于身高的第三百分位数。 儿童 胱氨酸病患者并不缺乏生长激素，然而，初步数据显示， 在年龄较大的儿童中，每天注射生长激素 刺激增长。 尽管增长有所改善，但也有证据表明， 这些年龄较大的儿童的肾小球功能可能会下降， 增长加快。 这项临床试验的设计是为了确定 生长激素会显著增加生长速度， 对胱氨酸病患者肾小球功能的不利影响。 大约30名患者将接受生长激素治疗，15名患者将 作为24个月的非安慰剂对照。

Cystinosis is a genetic disease which characterized by the renal tubular Fanconi syndrome in infancy, followed by progressive glomerular damage requiring dialysis and transplantation by 10 years of age. Among several other clinical manifestations is severe growth retardation. Cystinosis is treated with a cystine depleting thiol, cysteamine, which in addition to aiding other organs, also increases growth. However, most children with cystinosis still remain well below the 3rd percentile for height. Children with cystinosis are not growth hormone deficient, however, preliminary data in older children show that daily injections of growth hormone does stimulate growth. Though growth improves, there is also evidence that glomerular function may decrease in these older children as they experience increased growth. The design of this clinical trial is to determine if growth hormone will significantly increase growth velocity without having an adverse effect on glomerular function in cystinosis patients. Approximately 30 patients will receive growth hormone and 15 patients will serve as non-placebo controls for 24 months.